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The V388M Mutation Results in a Kinetic Variant Form of Phenylalanine Hydroxylase

✍ Scribed by Paula Leandro; Isabel Rivera; Maria Celeste Lechner; Isabel Tavares de Almeida; David Konecki


Book ID
115639652
Publisher
Elsevier Science
Year
2000
Tongue
English
Weight
89 KB
Volume
69
Category
Article
ISSN
1096-7192

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A new mutation has been identified in exon 12 of the gene encoding phenylalanine hydroxylase at codon 408. The single base change from guanine to adenine changes the amino acid arginine to glutamine; thus, the mutation is defined as R408Q. This codon is the site of a mutation known to causes phenylk